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JOURNAL OF INHERITED METABOLIC DISEASE
Rivista
Codice:
E092266
ISSN:
0141-8955
Dati Generali
Dati Generali
Pubblicazioni (7)
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria
Articolo
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
Articolo
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency
Articolo
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy
Articolo
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease
Articolo
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model
Articolo
The brain in late-onset glycogenosis II: a structural and functional MRI study.
Articolo
No Results Found
